Works by Olpin, Simon

Results: 17

Hypertrophic pyloric stenosis: predicting the resolution of biochemical abnormalities.

Published in:

2011

By:

Wilkinson, David;
Chapman, Richard;
Owen, Anthony;
Olpin, Simon;
Marven, Sean;
Wilkinson, David J;
Chapman, Richard A;
Marven, Sean S

Publication type:

journal article

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.

Published in:

Nature Genetics, 2002, v. 30, n. 4, p. 406

By:

Tomlinson, Ian P.M.;
Alam, N. Afrina;
Rowan, Andrew J.;
Barclay, Ella;
Jaeger, Emma E. M.;
Kelsell, David;
Leigh, Irene;
Gorman, Patricia;
Lamlum, Hanan;
Rahman, Shamima;
Roylance, Rebecca R.;
Olpin, Simon;
Bevan, Stephen;
Barker, Karen;
Hearle, Nicholas;
Houlston, Richard S.;
Kiuru, Maija;
Lehtonen, Rainer;
Karhu, Auli

Publication type:

Article

Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population.

Published in:

PLoS Genetics, 2010, v. 6, n. 12, p. 1, doi. 10.1371/journal.pgen.1001239

By:

Coassin, Stefan;
Schweiger, Martina;
Kloss-Brandstätter, Anita;
Lamina, Claudia;
Haun, Margot;
Erhart, Gertraud;
Paulweber, Bernhard;
Rahman, Yusof;
Olpin, Simon;
Wolinski, Heimo;
Cornaciu, Irina;
Zechner, Rudolf;
Zimmermann, Robert;
Kronenberg, Florian

Publication type:

Article

The metabolic investigation of sudden infant death.

Published in:

Annals of Clinical Biochemistry, 2004, v. 41, n. 4, p. 282, doi. 10.1258/0004563041201473

By:

Olpin, Simon E

Publication type:

Article

Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 2, p. 201, doi. 10.1111/nan.12147

By:

Raman, Rohini;
Allen, Scott P;
Goodall, Emily F;
Kramer, Shelley;
Ponger, Lize‐Linde;
Heath, Paul R.;
Milo, Marta;
Hollinger, Hannah C.;
Walsh, Theresa;
Highley, J Robin;
Olpin, Simon;
McDermott, Christopher J.;
Shaw, Pamela J.;
Kirby, Janine

Publication type:

Article

Transient 5-oxoprolinuria: unusually high anion gap acidosis in an infant.

Published in:

2015

By:

Hulley, Sarah;
Perring, Jeff;
Manning, Nigel;
Olpin, Simon;
Yap, Sufin;
Hulley, Sarah L

Publication type:

journal article

Investigation and Functional Characterization of Rare Genetic Variants in the Adipose Triglyceride Lipase in a Large Healthy Working Population.

Published in:

PLoS Pathogens, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001239

By:

Coassin, Stefan;
Schweiger, Martina;
Kloss-Brandstätter, Anita;
Lamina, Claudia;
Haun, Margot;
Erhart, Gertraud;
Paulweber, Bernhard;
Rahman, Yusof;
Olpin, Simon;
Wolinski, Heimo;
Cornaciu, Irina;
Zechner, Rudolf;
Zimmermann, Robert;
Kronenberg, Florian

Publication type:

Article

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503

By:

Schwantje, Marit;
Ebberink, Merel S.;
Doolaard, Mirjam;
Ruiter, Jos P. N.;
Fuchs, Sabine A.;
Darin, Niklas;
Hedberg‐Oldfors, Carola;
Régal, Luc;
Donker Kaat, Laura;
Huidekoper, Hidde H.;
Olpin, Simon;
Cole, Duncan;
Moat, Stuart J.;
Visser, Gepke;
Ferdinandusse, Sacha

Publication type:

Article

Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 809, doi. 10.1002/jimd.12135

By:

Knerr, Ina;
Colombo, Roberto;
Urquhart, Jill;
Morais, Ana;
Merinero, Begona;
Oyarzabal, Alfonso;
Pérez, Belén;
Jones, Simon A.;
Perveen, Rahat;
Preece, Mary A.;
Rogers, Yvonne;
Treacy, Eileen P.;
Mayne, Philip;
Zampino, Giuseppe;
MacKinnon, Sabrina;
Wassmer, Evangeline;
Yue, Wyatt W.;
Robinson, Ian;
Rodríguez‐Pombo, Pilar;
Olpin, Simon E.

Publication type:

Article

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 47, doi. 10.1007/s10545-015-9871-3

By:

Djouadi, Fatima;
Habarou, Florence;
Bachelier, Carole;
Ferdinandusse, Sacha;
Schlemmer, Dimitri;
Benoist, Jean;
Boutron, Audrey;
Andresen, Brage;
Visser, Gepke;
Lonlay, Pascale;
Olpin, Simon;
Fukao, Toshiyuki;
Yamaguchi, Seiji;
Strauss, Arnold;
Wanders, Ronald;
Bastin, Jean

Publication type:

Article

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 4, p. 645, doi. 10.1007/s10545-013-9611-5

By:

Olpin, Simon

Publication type:

Article

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Published in:

Human Genetics, 2015, v. 134, n. 8, p. 869, doi. 10.1007/s00439-015-1568-z

By:

Alston, Charlotte;
Ceccatelli Berti, Camilla;
Blakely, Emma;
Oláhová, Monika;
He, Langping;
McMahon, Colin;
Olpin, Simon;
Hargreaves, Iain;
Nolli, Cecilia;
McFarland, Robert;
Goffrini, Paola;
O'Sullivan, Maureen;
Taylor, Robert

Publication type:

Article

Biochemical assessment of patients following ketogenic diets for epilepsy: Current practice in the UK and Ireland.

Published in:

Epilepsia Open, 2020, v. 5, n. 1, p. 73, doi. 10.1002/epi4.12371

By:

Schoeler, Natasha E.;
Simpson, Zoe;
Whiteley, Victoria J.;
Nguyen, Patty;
Meskell, Rachel;
Lightfoot, Kathyrn;
Martin‐McGill, Kirsty J.;
Olpin, Simon;
Ivison, Fiona

Publication type:

Article

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2045, doi. 10.1093/brain/awm135

By:

Rikke K. J. Olsen;
Simon E. Olpin;
Brage S. Andresen;
Zofia H. Miedzybrodzka;
Morteza Pourfarzam;
Begoña Merinero;
Frank E. Frerman;
Michael W. Beresford;
John C. S. Dean;
Nanna Cornelius;
Oluf Andersen;
Anders Oldfors;
Elisabeth Holme;
Niels Gregersen;
Douglass M. Turnbull;
Andrew A. M. Morris

Publication type:

Article

Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts.

Published in:

Annals of Neurology, 2008, v. 64, n. 5, p. 555, doi. 10.1002/ana.21492

By:

Mortiboys, Heather;
Thomas, Kelly Jean;
Koopman, Werner J. H.;
Klaffke, Stefanie;
Abou-Sleiman, Patrick;
Olpin, Simon;
Wood, Nicholas W.;
Willems, Peter H. G. M.;
Smeitink, Jan A. M.;
Cookson, Mark R.;
Bandmann, Oliver

Publication type:

Article

The ETFDH c.158 A> G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl- Co A Dehydrogenation Deficiency.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 86, doi. 10.1002/humu.22455

By:

Olsen, Rikke K. J.;
Brøner, Sabrina;
Sabaratnam, Rugivan;
Doktor, Thomas K.;
Andersen, Henriette S.;
Bruun, Gitte H.;
Gahrn, Birthe;
Stenbroen, Vibeke;
Olpin, Simon E.;
Dobbie, Angus;
Gregersen, Niels;
Andresen, Brage S.

Publication type:

Article

Dysregulation of hypoxia pathways in fumarate hydratase-deficient cells is independent of defective mitochondrial metabolism.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 19, p. 3844, doi. 10.1093/hmg/ddq305

By:

O'Flaherty, Linda;
Adam, Julie;
Heather, Lisa C.;
Zhdanov, Alexander V.;
Chung, Yuen-Li;
Miranda, Melroy X.;
Croft, Joanne;
Olpin, Simon;
Clarke, Kieran;
Pugh, Christopher W.;
Griffiths, John;
Papkovsky, Dmitri;
Ashrafian, Houman;
Ratcliffe, Peter J.;
Pollard, Patrick J.

Publication type:

Article